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Article

Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death.

Human molecular genetics - 1 Jun 2019

Simmons Ambrosia J, Park Raehee, Sterling Noelle A, Jang Mi-Hyeon, van Deursen Jan M A, Yen Timothy J, Cho Seo-Hee, Kim Seonhee

Abstract excerpt

BUB-related 1 (BubR1) encoded by Budding Uninhibited by Benzimidazole 1B (BUB1B) is a crucial mitotic checkpoint protein ensuring proper segregation of chromosomes during mitosis. Mutations of BUB1B are responsible for mosaic variegated aneuploidy (MVA), a human congenital disorder characterized by extensive abnormalities in chromosome number. Although microcephaly is a prominent feature of MVA carrying the BUB1B...

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Identifiers

PMID: 30668728
DOI: 10.1093/hmg/ddz022
PMCID: PMC6522074

Genes

BUB1B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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